Variant: rs1057516345 

    present in Gene: PKHD1;LOC105375087
    present in Chromosome: 6
    Position on Chromosome: 51659417
    Alleles of this Variant: G/C

rs1057516345 in PKHD1;LOC105375087 gene and Autosomal Recessive Polycystic Kidney Disease PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).